Anatomy subcategory
Inborn Errors of Metabolism
Mnemonics for inherited metabolic disorders and the enzyme defects behind them.
Entries in Inborn Errors of Metabolism
A defective chloride channel causes thick secretions in every exocrine organ
A memory aid for the molecular defect in cystic fibrosis.
Loss of NADPH leaves red cells defenceless against oxidative stress
A memory aid for glucose-6-phosphate dehydrogenase deficiency and its triggers.
Cystathionine beta synthase deficiency, resembling Marfan syndrome with thrombosis
A memory aid for the features of homocystinuria.
Enzyme deficiency causes substrate accumulation within lysosomes
A memory aid for the main lysosomal storage diseases.
Maternally inherited, affecting the most energy dependent tissues
A memory aid for the features and inheritance of mitochondrial disease.
Nine conditions in the UK programme, taken at day 5
A memory aid for the conditions detected on the newborn blood spot.
Organic acidaemias cause acidosis with a raised anion gap; urea cycle defects cause alkalosis
A memory aid for distinguishing the two groups of metabolic crisis in neonates.
Phenylalanine hydroxylase deficiency, so phenylalanine accumulates and tyrosine becomes essential
A memory aid for the biochemistry of phenylketonuria.
Wilson accumulates copper; haemochromatosis accumulates iron
A memory aid for the two classic metal overload disorders.